Canonical Allele Identifier: CA5168766

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 364431
• ClinVar RCV Id: RCV000263472 ; RCV000318710 ; RCV000590520 ; RCV001700361 ; RCV002467766 ; RCV002446622
• dbSNP Id: rs35819696
• ExAC: 9:107589246 T / G
• gnomAD v2: 9-107589246-T-G
• gnomAD v3: 9-104826965-T-G
• gnomAD v4: 9-104826965-T-G
• MyVariant Identifiers: chr9:g.107589246T>G (hg19) ; chr9:g.104826965T>G (hg38)
• PubMed: PMID:11238261 ; PMID:12763760 ; PMID:15297675 ; PMID:15486467 ; PMID:15520867 ; PMID:16226177 ; PMID:16429166 ; PMID:16806540 ; PMID:18523221 ; PMID:19596329

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104826965T>G , CM000671.2:g.104826965T>G	GRCh38
NC_000009.11:g.107589246T>G , CM000671.1:g.107589246T>G	GRCh37
NC_000009.10:g.106629067T>G	NCBI36
NG_007981.1:g.106191A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.2320A>C MANE Select	ENSP00000363868.3:p.Thr774Pro
ENST00000678995.1:c.2320A>C	ENSP00000504612.1:p.Thr774Pro
ENST00000374736.7:c.2320A>C	ENSP00000363868.3:p.Thr774Pro
ENST00000494467.1:n.493A>C
NM_005502.3:c.2320A>C	NP_005493.2:p.Thr774Pro
XM_005251773.1:c.2320A>C	XP_005251830.1:p.Thr774Pro
XM_005251776.1:c.2140A>C	XP_005251833.1:p.Thr714Pro
XM_011518339.1:c.2395A>C	XP_011516641.1:p.Thr799Pro
XM_011518340.1:c.2395A>C	XP_011516642.1:p.Thr799Pro
XM_011518341.1:c.2395A>C	XP_011516643.1:p.Thr799Pro
XM_011518342.1:c.1957A>C	XP_011516644.1:p.Thr653Pro
XM_011518343.1:c.2395A>C	XP_011516645.1:p.Thr799Pro
XM_011518344.1:c.2395A>C	XP_011516646.1:p.Thr799Pro
XM_005251773.3:c.2320A>C	XP_005251830.1:p.Thr774Pro
XM_005251776.3:c.2140A>C	XP_005251833.1:p.Thr714Pro
XM_011518339.3:c.2395A>C	XP_011516641.1:p.Thr799Pro
XM_011518340.3:c.2395A>C	XP_011516642.1:p.Thr799Pro
XM_011518341.3:c.2395A>C	XP_011516643.1:p.Thr799Pro
XM_011518342.3:c.1957A>C	XP_011516644.1:p.Thr653Pro
XM_011518344.2:c.2395A>C	XP_011516646.1:p.Thr799Pro
XM_017014378.2:c.2395A>C	XP_016869867.1:p.Thr799Pro
XM_017014379.2:c.2395A>C	XP_016869868.1:p.Thr799Pro
XM_017014380.2:c.2395A>C	XP_016869869.1:p.Thr799Pro
XM_017014381.2:c.2395A>C	XP_016869870.1:p.Thr799Pro
XM_017014382.2:c.2257A>C	XP_016869871.1:p.Thr753Pro
XR_001746223.1:n.2708A>C
NM_005502.4:c.2320A>C MANE Select	NP_005493.2:p.Thr774Pro